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MCID: KPS002
MIFTS: 46

Kaposiform Hemangioendothelioma

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Kaposiform Hemangioendothelioma

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MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 53 59 73
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 53
Kaposiform Hemangio-Endothelioma 53
Khe 53
Kh 53

Characteristics:

Orphanet epidemiological data:

59
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 59 ORPHA2122
ICD10 via Orphanet 34 D18.0
MESH via Orphanet 45 C537007
UMLS via Orphanet 74 C1367420
UMLS 73 C1367420
Sources

Summaries for Kaposiform Hemangioendothelioma

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2122Disease definitionKaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and lymphatic malformations. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Vincristine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and bone, and related phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and cardiovascular system

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Related Diseases for Kaposiform Hemangioendothelioma

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Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 30.8 FLI1 FLT4 KDR PECAM1
2 lymphatic malformations 30.6 FLT4 PROX1
3 capillary hemangioma 30.2 KDR PECAM1 PROX1
4 lymphangioma 30.0 FLT4 KDR PROX1
5 hemangioma 28.3 CD34 FLT4 KDR PECAM1 PROX1
6 hemangioma-thrombocytopenia syndrome 11.6
7 angioma, tufted 11.6
8 skin hemangioma 10.4 KDR PROX1
9 hemangioma, capillary infantile 10.4 FLT4 KDR
10 pulmonary vein stenosis 10.3 KDR PECAM1
11 hennekam syndrome 10.2 FLT4 PROX1
12 radiation proctitis 10.2 KDR PECAM1
13 lymphangiomatosis 10.2
14 epithelioid hemangioendothelioma 10.2 KDR PECAM1
15 pancreatitis 10.2
16 mediastinitis 10.2
17 hydrocele 10.2 FLT4 PECAM1
18 lymphedema 10.1
19 endotheliitis 10.1
20 fragile x syndrome 10.1
21 ewing's family of tumors 10.0 FLI1 MTOR
22 aplasia cutis congenita, nonsyndromic 9.9
23 intussusception 9.9
24 laryngomalacia 9.9
25 rheumatoid arthritis 9.9
26 ascites, chylous 9.9
27 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
28 arthritis 9.9
29 hereditary lymphedema 9.9
30 scoliosis 9.9
31 tonsillitis 9.9
32 sarcoma 9.9
33 hemopericardium 9.9
34 pericardial effusion 9.9
35 cervicitis 9.9
36 laryngitis 9.9
37 duodenal obstruction 9.9
38 pneumonia 9.9
39 intestinal obstruction 9.9
40 duodenitis 9.9
41 hemophilia 9.9
42 aplasia cutis congenita 9.9
43 fetal edema 9.9
44 hydrops fetalis 9.9
45 pyogenic granuloma 9.9
46 soft tissue sarcoma 9.9
47 neuronitis 9.9
48 breast carcinoma in situ 9.9 FLT4 KDR
49 hobnail hemangioma 9.9 CD34 FLT4
50 senile angioma 9.9 CD34 KDR

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma
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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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GenomeRNAi Phenotypes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.8 FLT4 KDR MTOR

MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 FLT4 VWF KDR MTOR PECAM1 FLI1
2 cellular MP:0005384 9.91 PROX1 VWF KDR MTOR CD34 PECAM1
3 hematopoietic system MP:0005397 9.87 PROX1 VWF KDR MTOR CD34 PECAM1
4 homeostasis/metabolism MP:0005376 9.8 PROX1 FLT4 VWF KDR MTOR CD34
5 immune system MP:0005387 9.76 FLT4 VWF KDR MTOR PECAM1 CD34
6 liver/biliary system MP:0005370 9.35 PROX1 FLT4 KDR PECAM1 FLI1
7 muscle MP:0005369 9.1 FLT4 KDR MTOR PECAM1 FLI1 PROX1
Sources

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
4
Everolimus Approved Phase 2 159351-69-6 6442177
5
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
8 tannic acid Approved, Nutraceutical Phase 2
9 Prednisolone acetate Phase 2
10 glucocorticoids Phase 2
11 Methylprednisolone acetate Phase 2
12 Methylprednisolone Hemisuccinate Phase 2
13 Gastrointestinal Agents Phase 2
14 Neuroprotective Agents Phase 2
15 Hormone Antagonists Phase 2
16 Hormones Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 Antibiotics, Antitubercular Phase 2
21 Immunosuppressive Agents Phase 2
22 Prednisolone hemisuccinate Phase 2
23 Prednisolone phosphate Phase 2
24 Anti-Infective Agents Phase 2
25 Antiemetics Phase 2
26 Antifungal Agents Phase 2
27 Protective Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Autonomic Agents Phase 2
30 Antimitotic Agents Phase 2
31 Antineoplastic Agents, Hormonal Phase 2
32 Antineoplastic Agents, Phytogenic Phase 2
33 Mitogens
34 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
2 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
3 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
4 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
5 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

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Anatomical Context for Kaposiform Hemangioendothelioma

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MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

41
Endothelial, Skin, Bone, Tongue, Spleen, Tonsil, Kidney
Sources

Publications for Kaposiform Hemangioendothelioma

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Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 150)
# Title Authors Year
1
Sirolimus for treatment of Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon: A retrospective cohort study. ( 29388191 )
2018
2
Clinical and imagingA features ofA Kaposiform Hemangioendothelioma. ( 29536769 )
2018
3
Impact of sirolimus treatment for refractory kaposiform hemangioendothelioma with exacerbation of the disease 10a88years after initial diagnosis. ( 29872523 )
2018
4
Association between extremity kaposiform hemangioendothelioma and lymphedema. ( 29266383 )
2018
5
Atypically presenting kaposiform hemangioendothelioma of the knee: ultrasound findings. ( 29637402 )
2018
6
Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract. ( 29554025 )
2018
7
Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma. ( 29561329 )
2018
8
<i>Pneumocystis Jirovecii</i> Pneumonia During Sirolimus Therapy for Kaposiform Hemangioendothelioma. ( 29610164 )
2018
9
Successful Management of Pancreatic Kaposiform Hemangioendothelioma With Sirolimus: Case Report and Literature Review. ( 28426496 )
2017
10
Kaposiform hemangioendothelioma in an adult with rheumatoid arthritis. ( 29154372 )
2017
11
Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study. ( 28486787 )
2017
12
Identical Presentation of Scapular Osteolysis in Two Patients with Thoracic Kaposiform Hemangioendothelioma. ( 28382716 )
2017
13
Long-term outcome for kaposiform hemangioendothelioma: A report of two cases. ( 27701822 )
2017
14
Intestinal obstruction due to kaposiform hemangioendothelioma in a 1-month-old infant: A case report. ( 28906349 )
2017
15
Pancreatic Kaposiform Hemangioendothelioma Not Responding to Sirolimus. ( 28761800 )
2017
16
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. ( 29240034 )
2017
17
Imaging findings of Kaposiform Hemangioendothelioma in children. ( 28027747 )
2017
18
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. ( 28220608 )
2017
19
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
20
Restricted Range of Motion and a Cold Upper Extremity in a Two-Year-Old Boy: Kaposiform Hemangioendothelioma of the Bone and the Brachial Plexus: A Case Report. ( 29286963 )
2017
21
Treatment of kaposiform hemangioendothelioma and tufted angioma. ( 27252149 )
2016
22
Multifocal Kaposiform Hemangioendothelioma Causing Massive Fetal Chylous Ascites. ( 27983885 )
2016
23
Kaposiform Hemangioendothelioma: Multifocal Involvement, Chylothorax, and Kasabach-Merritt Phenomenon. ( 27820128 )
2016
24
Surgical treatment of a huge kaposiform hemangioendothelioma in the chest wall: A case study. ( 28228957 )
2016
25
Response to Paclitaxel in an Adult Patient with Advanced Kaposiform Hemangioendothelioma. ( 27721772 )
2016
26
Neonatal kaposiform hemangioendothelioma of the spleen associated with Kasabach-Merritt phenomenon. ( 27342010 )
2016
27
The clinical spectrum of kaposiform hemangioendothelioma and tufted angioma. ( 27607323 )
2016
28
Adult-onset Kaposiform hemangioendothelioma of the tongue: case report and review of the literature. ( 27803613 )
2016
29
Recurrent multifocal cutaneous Kaposiform hemangioendothelioma: A rare vascular tumor of infancy and childhood. ( 27510687 )
2016
30
Abdominal Kaposiform Hemangioendothelioma Associated With Lymphangiomatosis Involving Mesentery and Ileum: A Case Report of MRI, CT, and 18F-FDG PET/CT Findings. ( 26871848 )
2016
31
Bullous Kaposiform Hemangioendothelioma Masquerading as Aplasia Cutis Congenita. ( 27339319 )
2016
32
Role of Sirolimus in Advanced Kaposiform Hemangioendothelioma. ( 26864138 )
2016
33
An intermediate vascular tumour between kaposiform hemangioendothelioma and tufted angioma with regression of the skin lesion. ( 27882874 )
2016
34
Clinical Outcomes for Systemic Corticosteroids Versus Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma. ( 27196448 )
2016
35
Successful Propranolol Treatment of a Kaposiform Hemangioendothelioma Apparently Resistant to Propranolol. ( 27100060 )
2016
36
Interferon-alpha therapy for refractory kaposiform hemangioendothelioma: a single-center experience. ( 27796340 )
2016
37
Sirolimus for treatment of kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon. ( 27981218 )
2016
38
Kaposiform Hemangioendothelioma in a 3A Months Old Infant. ( 27408442 )
2016
39
Successful Everolimus Treatment of Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon: Clinical Efficacy and Adverse Effects of mTOR Inhibitor Therapy. ( 26907642 )
2016
40
Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations. ( 28099595 )
2016
41
Kaposiform hemangioendothelioma: therapeutic efficacy for an enigmatic diagnosis. ( 25559734 )
2015
42
Decreased vascularization of retroperitoneal kaposiform hemangioendothelioma induced by treatment with sirolimus explains relief of symptoms. ( 25662209 )
2015
43
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in a neonate of life- and limb-threatening nature: A case report. ( 26628813 )
2015
44
Refractory Kaposiform Hemangioendothelioma Associated with a Chromosomal Translocation t (13; 16) (q14; p13.3). ( 26555222 )
2015
45
The importance of early diagnosis and treatment of kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon. ( 25692091 )
2015
46
Clinicopathological features of Kaposiform hemangioendothelioma. ( 26722599 )
2015
47
A case of kaposiform hemangioendothelioma at the sigmoid colon. ( 26062947 )
2015
48
Comment on: Steroid-resistant kaposiform hemangioendothelioma: A retrospective study of 37 patients treated with vincristine and long-term follow-up. ( 26052679 )
2015
49
Steroid-resistant kaposiform hemangioendothelioma: A retrospective study of 37 patients treated with vincristine and long-term follow-up. ( 25346262 )
2014
50
Multifocal kaposiform hemangioendothelioma in multiple visceral organs: an autopsy of 9-day-old female baby. ( 24931465 )
2014
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Variations for Kaposiform Hemangioendothelioma

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Expression for Kaposiform Hemangioendothelioma

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Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.
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Pathways for Kaposiform Hemangioendothelioma

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Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.67 FLT4 GNA14 KDR MTOR
2
p70S6K Signaling 64
Show member pathways
 12.61 FLT4 GNA14 KDR MTOR
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.5 FLT4 KDR MTOR VWF
4
NF-kappaB Signaling 4
12.2 CD34 FLI1 PECAM1
5
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.13 FLT4 KDR MTOR
6
Apoptosis Pathway 72
Show member pathways
 12 FLT4 KDR MTOR
7
AKT Signaling Pathway 67
11.65 FLT4 KDR MTOR
8
ECM-receptor interaction 37
Show member pathways
 11.61 KDR PECAM1 VWF
9
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.32 FLT4 KDR MTOR
10
Vemurafenib Pathway, Pharmacodynamics 61
11.08 FLT4 KDR
11
Angiogenesis (CST) 4
10.97 FLT4 KDR PECAM1 PROX1 VWF
12
VEGF ligand-receptor interactions 66
Show member pathways
 10.36 FLT4 KDR
Sources

GO Terms for Kaposiform Hemangioendothelioma

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Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.67 KDR PECAM1 VWF
2 protein autophosphorylation GO:0046777 9.65 FLT4 KDR MTOR
3 positive regulation of protein phosphorylation GO:0001934 9.63 FLT4 KDR MTOR
4 vasculogenesis GO:0001570 9.54 FLT4 KDR
5 hemostasis GO:0007599 9.52 FLI1 VWF
6 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.51 FLT4 KDR
7 lymph vessel development GO:0001945 9.43 FLT4 PROX1
8 lymphangiogenesis GO:0001946 9.4 FLT4 PROX1
9 vascular endothelial growth factor signaling pathway GO:0038084 9.37 FLT4 KDR
10 positive regulation of endothelial cell migration GO:0010595 9.33 FLT4 KDR PROX1
11 positive regulation of vasculogenesis GO:2001214 9.32 CD34 KDR
12 endothelium development GO:0003158 9.26 CD34 KDR
13 glomerular endothelium development GO:0072011 8.96 CD34 PECAM1
14 positive regulation of endothelial cell proliferation GO:0001938 8.92 FLT4 KDR MTOR PROX1

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 FLT4 KDR
2 growth factor binding GO:0019838 8.96 FLT4 KDR
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT4 KDR
Sources

Sources for Kaposiform Hemangioendothelioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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